ACSM2A: Acyl-CoA Synthetase Medium-Chain Family Member 2A
Mitochondrial medium-chain acyl-CoA synthetase involved in fatty acid metabolism and detoxification
Gene Information Card
| Symbol | ACSM2A |
|---|---|
| Full Name | Acyl-CoA Synthetase Medium-Chain Family Member 2A |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.3 |
| NCBI Gene ID | 348158 ncbi.nlm.nih.gov/gene/348158 |
| Ensembl ID | ENSG00000183773 |
| UniProt ID | Q08AH1 |
| OMIM ID | 614359 |
| HGNC ID | 26499 |
| Aliases | ACS2, MACS2, MGC131853 |
Description
ACSM2A encodes a member of the acyl-CoA synthetase family that activates medium-chain fatty acids (C4-C12) to their CoA derivatives for mitochondrial beta-oxidation. The enzyme is localized to the mitochondrial matrix and plays a role in the detoxification of xenobiotic carboxylic acids. Expression is highest in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) | ACSM2A may modulate metabolic flux in MCADD; direct pathogenic mutations not established | Limited; indirect evidence from metabolic studies |
| Non-alcoholic fatty liver disease (NAFLD) | Altered ACSM2A expression linked to hepatic lipid accumulation | Expression profiling in human liver samples |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small intestine | 3.1 | Low |
| Adrenal gland | 2.0 | Low |
| Heart | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 1.5 | Embryonic kidney cells |
| Caco-2 | 2.8 | Colorectal adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% (gnomAD) | Likely loss of start codon; functional impact unknown |
| c.104C>T (p.Pro35Leu) | Missense | 0.02% | Reduced enzyme activity in vitro |
Mutation functional classification
Loss of Function (LOF)
p.Pro35Leu shows reduced catalytic activity in heterologous expression systems.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003987 – acetate-CoA ligase activity | • GO:0005739 – mitochondrion |
| • GO:0006631 – fatty acid metabolic process | • GO:0016874 – ligase activity |
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• Beta-oxidation of medium-chain fatty acids (KEGG: hsa00071)
Protein Summary
ACSM2A is a 579-amino acid mitochondrial matrix protein that catalyzes the ATP-dependent ligation of medium-chain fatty acids (C4-C12) with coenzyme A. The enzyme is essential for the entry of these fatty acids into beta-oxidation. It also participates in the detoxification of xenobiotic carboxylic acids by converting them to CoA thioesters. The protein contains a conserved AMP-binding domain characteristic of the acyl-CoA synthetase family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACSM2A Knockout HEK293 Cell Line | EDJ-KQ8329 | Human | 123876 | Details Get a Quote |
| ACSM2A Knockout HeLa Cell Line | EDJ-KQ58124 | Human | 123876 | Details Get a Quote |
| ACSM2A Knockout A-549 Cell Line | EDJ-KQ66610 | Human | 123876 | Details Get a Quote |
| ACSM2A Knockout HCT 116 Cell Line | EDJ-KQ75028 | Human | 123876 | Details Get a Quote |
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